Phenotype #0000296523

Individual ID	00403843
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	weight on the 10th centile, height 10th centile, OFC 10th centile; motor development independent in basic activity of daily living; impaired gait and balance; profound intellectual disability; pseudobulbar affect, 44y-psychosis with prominent auditory and visual hallucination and episodes of agression; 18y-epilepsy, 2 focal, 18 and 23y dyscognitive seizures with secondary generalization; MRI brain white matter abnormalities, scattered T2/fluid-attenuated incersion recovery (FLAIR) hyperintensities in the cerebral white matter, most prominent in periventricular zones; dysmorphism; genu valgum; Nefropathy, asymptomatic proteinuria, dysarthria,
Inheritance	Familial, autosomal recessive
Age/Examination	44y (44 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-24 15:46:26 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD